alexander disease/ataxie

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Adult-onset Alexander disease with progressive ataxia and palatal tremor.

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A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. This is the oldest reported case with confirmation of a GFAP mutation. Onset was late in the sixth decade. Genetic analysis of the GFAP gene is recommended in cases of

Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease.

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Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.

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Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

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Adult-onset Alexander disease : report on a family.

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Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have been found in the three subtypes of infantile, juvenile and adult Alexander disease. Here we describe four members of an Italian family (32 to 66-yearsold, 2 women and 2 men) affected by adult

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

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The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same etiology as infantile and juvenile Alexander

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

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In this report, we describe the case of a new Japanese family (32 to 64 years old; 2 females and 1 male) affected by adult-onset Alexander disease. Clinically, one member (age at onset, 56 years old) developed cerebellar ataxia, another (age at onset, 55 years old) showed cerebellar ataxia and

Atypical MRI features in familial adult onset Alexander disease: case report.

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BACKGROUND Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. METHODS We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease.

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Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0-2 years), juvenile (2-13 years), and adult (>13 years). The three forms differ in symptoms and prognosis. Rapid neurological decline with a

TRH therapy in a patient with juvenile Alexander disease.

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Alexander disease is a rare disorder of the central nervous system caused by a de novo mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar signs. Herein, we report a

The clinical spectrum of late-onset Alexander disease: a systematic literature review.

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Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case reports have recently increased, prompting a more detailed comprehension of the clinical features of the three disease subtypes (infantile, juvenile and adult).

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

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BACKGROUND Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly,

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

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Alexander disease (ALXDRD) is a rare astrocytic leukodystrophy caused by GFAP mutations. The adult-onset (AO) variant is usually characterized by gradual onset of spastic ataxia and bulbar symptoms with slowly progressive course. We report two AO-ALXDRD cases with rapid worsening after minor head

Alexander disease--classification revisited and isolation of a neonatal form.

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Alexander disease is usually classified according to the age of onset, e.g. an infantile form with onset during the first two years of life, a juvenile form with onset in childhood, mainly school age. It has been recognized, however, that the clinical course can be very variable within these groups.

Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

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BACKGROUND Alexander disease (AxD) is an astrogliopathy, resulting from a mutation in the glial fibrillary astrocytic protein gene. Different clinical subtypes have been described, including infantile, juvenile, and adult onset, based upon the age at which symptoms begin. Patients with the

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